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Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DBT
(R462P)
Single nucleotide variant
(missense variant)
Maple syrup urine disease
GPathogenic
DBT
Single nucleotide variant
(intron variant)
not specified
+2 more
GUncertain significance
DBT
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
DBT
(G406V)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
DBT
Single nucleotide variant
(intron variant)
Maple syrup urine disease
+2 more
GBenign
DBT
(I401T)
Single nucleotide variant
(missense variant)
Maple syrup urine disease
+2 more
GConflicting classifications of pathogenicity
DBT
(L217F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DBT
Deletion
(nonsense)
Maple syrup urine disease
GLikely pathogenic
DBT
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
DBT
(R376C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DBT
(H342Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DBT
Single nucleotide variant
(intron variant)
Maple syrup urine disease type 1A
+2 more
GPathogenic/Likely pathogenic
DBT
(K313N)
Single nucleotide variant
(missense variant)
Maple syrup urine disease type 2
+2 more
GPathogenic/Likely pathogenic
DBT
(S306P)
Single nucleotide variant
(missense variant)
Maple syrup urine disease
GPathogenic
DBT
(R301H)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
DBT
(R301C)
Single nucleotide variant
(missense variant)
Maple syrup urine disease type 1A
+2 more
GPathogenic/Likely pathogenic
DBT
(R291L)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
DBT
(F276C)
Single nucleotide variant
(missense variant)
See cases
+3 more
GPathogenic/Likely pathogenic
DBT
(M263I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DBT
Indel
(inframe_indel +1 more)
not specified
GUncertain significance
DBT
(E224*)
Single nucleotide variant
(nonsense)
Maple syrup urine disease
+3 more
GPathogenic
DBT
Single nucleotide variant
(splice acceptor variant)
Maple syrup urine disease
GLikely pathogenic
DBT
Single nucleotide variant
(intron variant)
not specified
+1 more
GUncertain significance
DBT
(I138T)
Single nucleotide variant
(non-coding transcript variant +2 more)
not specified
GUncertain significance
DBT
(G132R)
Single nucleotide variant
(5 prime UTR variant +2 more)
Maple syrup urine disease
GLikely pathogenic
DBT
(Y122fs)
Microsatellite
(frameshift variant)
Maple syrup urine disease
GPathogenic
DBT
(E88del)
Microsatellite
(inframe_deletion)
Maple syrup urine disease type 1A
+1 more
GPathogenic/Likely pathogenic
DBT
(L69R)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
DBT
(C26fs)
Deletion
(frameshift variant)
Maple syrup urine disease type 2
+2 more
GPathogenic
DBT
(M1V)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
DBT
Deletion
Maple syrup urine disease
GPathogenic
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